Canonical Allele Identifier: CA912655412
Gene: PROS1 HGNC NCBI

Linked Data

dbSNP Id: rs1165719959
gnomAD v3: 3-93905491-G-C
gnomAD v4: 3-93905491-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93905491G>C , CM000665.2:g.93905491G>C GRCh38
NC_000003.11:g.93624335G>C , CM000665.1:g.93624335G>C GRCh37
NC_000003.10:g.95107025G>C NCBI36
NG_009813.1:g.73600C>G , LRG_572:g.73600C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.601+293C>G ENSP00000330021.7:n.601+293C>G
ENST00000394236.9:c.601+293C>G MANE Select ENSP00000377783.3:n.601+293C>G
ENST00000407433.6:c.556+338C>G ENSP00000385794.2:n.556+338C>G
ENST00000647936.1:c.601+293C>G ENSP00000496822.1:n.601+293C>G
ENST00000648381.1:n.769+293C>G
ENST00000648853.1:c.559+293C>G ENSP00000497262.1:n.559+293C>G
ENST00000649103.1:c.700+293C>G ENSP00000497962.1:n.700+293C>G
ENST00000650591.1:c.697+293C>G ENSP00000497376.1:n.697+293C>G
ENST00000394236.7:c.601+293C>G ENSP00000377783.3:n.601+293C>G
ENST00000407433.5:c.208+293C>G ENSP00000385794.1:n.208+293C>G
NM_000313.3:c.601+293C>G , LRG_572t1:c.601+293C>G NP_000304.2:n.601+293C>G
NM_001314077.1:c.697+293C>G , LRG_572t2:c.697+293C>G NP_001301006.1:n.697+293C>G
NM_000313.4:c.601+293C>G MANE Select NP_000304.2:n.601+293C>G
NM_001314077.2:c.697+293C>G NP_001301006.1:n.697+293C>G